C57BL/6-Fxr1em1Geno/Cnbc
| Status | Available to order |
| EMMA ID | EM:12709 |
| Citation information | RRID:IMSR_EM:12709 Research Resource Identifiers (RRID) are persistent unique ID numbers assigned to help researchers cite key resources (e.g. antibodies, model organisms and software projects) in the biomedical literature to improve transparency and reproducibility in research. See https://www.rrids.org/ for more information. |
| International strain name | C57BL/6-Fxr1em1Geno/Cnbc |
| Alternative name | Fxr1em1.1Vlrp |
| Strain type | Endonuclease-mediated |
| Allele/Transgene symbol | Fxr1em1Geno |
| Gene/Transgene symbol | Fxr1 |
Information from provider
| Provider | Victor Luis Ruíz Pérez |
| Provider affiliation | Instituto de Investigaciones Biomédicas "Alberto Sols"-CSIC |
| Genetic information | A CRISPR sgRNA specifically designed to target Fxr1 exon15 and generate the 4-bp ACAG deletion (NM_001113188.1:c.1764_1767delACAG; p.(Arg588Serfs*37)). |
| Phenotypic information | Homozygous:Homozygous mutants are born at Mendelian ratio and survived to adulthood, but develop a multi-minicore myopathy. Homozygotes are leaner than their littermates and exhibit lower body weight, due to a reduction in muscle mass. They also have less strength and a decrease in bone density. Mutant isoforms e and f of the FXR1 protein accumulate in cytoplasmic granules in muscle tissue.Heterozygous:No phenotype was observed in heterozygous mice except small number of cytoplasmic granules in muscle cells where the mutated protein is located. |
| Breeding history | F5 generation mice were maintained in a C57BL/6J genetic background by crossing heterozygous males to wt females. Generation of founders of this mouse line was made by ordering to genOway (Lion-France). |
| References |
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| Homozygous fertile | yes |
| Homozygous viable | yes |
| Homozygous matings required | no |
| Immunocompromised | no |
Information from EMMA
| Archiving centre | CNB-CSIC, Centro Nacional de Biotecnologia, Madrid, Spain |
| Animals used for archiving | heterozygous C57BL/6J males |
Literature references
- Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy.;Estañ María Cristina, Fernández-Núñez Elisa, Zaki Maha S, Esteban María Isabel, Donkervoort Sandra, Hawkins Cynthia, Caparros-Martin José A, Saade Dimah, Hu Ying, Bolduc Véronique, Chao Katherine Ru-Yui, Nevado Julián, Lamuedra Ana, Largo Raquel, Herrero-Beaumont Gabriel, Regadera Javier, Hernandez-Chico Concepción, Tizzano Eduardo F, Martinez-Glez Victor, Carvajal Jaime J, Zong Ruiting, Nelson David L, Otaify Ghada A, Temtamy Samia, Aglan Mona, Issa Mahmoud, Bönnemann Carsten G, Lapunzina Pablo, Yoon Grace, Ruiz-Perez Victor L, ;2019;Nature communications;10;797; 30770808